Table 2.
Comparison of neuropathy disease loci and proteins identified in PNS myelin
| Disease | OMIM no. | Locus | Genes in locus | Myelin associated genes |
|---|---|---|---|---|
| Neuropathy with known disease gene | Proven neuropathy gene | |||
| CMT1B/2I/2J/3B, DSS | 159440 | 1q23.3 | 28 | MPZ |
| CMT2B | 602298 | 3q21.3 | 42 | RAB7A |
| CMT2D, HMN5A | 600287 | 7p15 | 84 | GARS |
| CMT1F/2E | 162280 | 8p21 | 87 | NEFL |
| CMT2F, HMN2B | 602195 | 7q11.23 | 86 | HSPB1 (HSP27) |
| CMT3D/4F, DSS | 605725 | 19q13.13-q13.2 | 136 | PRX |
| CMT4D | 605262 | 8q24.22 | 108 | NDRG1* |
| HNA | 162100 | 17q25 | 94 | SEPT9 |
| Neuropathy lacking a known disease gene | Candidate neuropathy genes | |||
| CMT2C, DSMA | 606071 | 12q23-q24 | 304 | VPS29, RAN, CKAP4, DYNLL1, ERP29, ALDH2, HSP90B1, RAB35, SLC25A3 |
| CMT2G | 608591 | 12q12.2-q13.3 | 307 | ARF3, KRT, PRPH, ATP5B, CS, COL2A1, DCTN2, GPD1, FAM62A |
| DI-CMTA | 606483 | 10q24.1-q25.1 | 129 | PGAM1, INA, ARP1, GOT1, SFXN3 |
| CMT3C | NA | 8q23-q24 | 204 | OXR1, NDRG1, PLEC1 |
| CMT4G | 605285 | 10q23.2 | 18 | GLUD1 |
| CMT4C2 | NA | 8q21.2-q21.3 | 21 | CA2, CA3, GDAP, PMP2, FABP4 |
| CMTX2 | 302801 | Xp22.2 | 48 | NA |
| CMTX3 | 302802 | Xq26 | 54 | HPRT1 |
| CMTX4 | 310490 | Xq24-q26.1 | 77 | SLC25A5, PGRMC1 |
| HMN7A | 158580 | 2q14 | 53 | ACTR3, TSN |
| HMN3, HMN4, DSMA3 | 607088 | 11q13 | 268 | PC, STIP1, SERPINH1, CFL1, PRDX5, RAB6A, RAB1B, EHD1, GSTP1, DHCR7, RTN3 |
| HMN-J, DSMA2 | 605726 | 9p21.1-p12 | 123 | TLN1, VCP, TPM2, ALDH1B1 |
| HMN-X | NA | Xq13-q22 | 210 | DRP2, PLP1 |
| HSAN1B | 608088 | 3p22-p24 | 134 | PDCD6IP, RAB5A |
| HSAN with SPG | NA | 5q15.31-q14.1 | 82 | NA |
| HSAN with deafness | NA | Xq23-q27.3 | 174 | SLC25A5, HPRT1, PGRMC1 |
Proteins identified by MS in sciatic nerve myelin were analyzed with respect to the localization of the corresponding gene in the human genome for comparison with neuropathy disease loci. *Note that CMT4D has been previously associated with 8q24.3 while the causative gene (NDRG1) is located at 8q24.22. CMT, Charcot-Marie-Tooth disease; DSS, Déjerine-Sottas syndrome; HMN, hereditary motor neuropathy; HSAN, hereditary sensory and autonomic neuropathy; NA, not applicable; OMIM, Online Mendelian Inheritance in Man.